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Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity

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Rare Diseases Epidemiology: Update and Overview

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1031))

Abstract

Advances in our understanding of genetic and rare diseases are changing the face of healthcare. Crucially, the global community must implement these advances equitably to reduce health disparities, including between Indigenous and non-Indigenous peoples. We take an Australian perspective to illustrate some key areas that are fundamental to the equitable translation of new knowledge for the improved diagnosis of genetic and rare diseases for Indigenous people. Specifically, we focus on inequalities in access to clinical genetics services and the lack of genetic and phenomic reference data to inform diagnoses. We provide examples of ways in which these inequities are being addressed through Australian partnerships to support a harmonious and inclusive approach to ensure that benefits from traditional wisdom, community knowledge and shared experiences are interwoven to support and inform implementation of new knowledge from genomics and precision public health. This will serve to deliver benefits to all of our diverse citizens, including Indigenous populations.

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Notes

  1. 1.

    Historic blood samples collected from Indigenous Australians could connect members of the stolen generations to their families and improve healthcare for chronic diseases, but not without confronting a troubled legacy of scientific exploitation and racial classification. About 7000 samples were collected from 43 remote communities in northern Australia in the 1960s and 1970s as part of a range of studies. The samples were used by researchers until ethical concerns about the use of Indigenous DNA prompted a moratorium in the 1990s, and have spent the intervening years preserved in Canberra. They are now collected at the Australian National University’s National Centre for Indigenous Genomics, which has begun the process of tracking down the donors and their next of kin and getting consent to make sequenced genomes available to researchers. The process has been helped by the possibility the DNA bank could help members of the stolen generation find their lost families “Because of that it’s such a cultural, sensitive, and difficult issue for some of the Indigenous community … so we were driven to create the very best example of Indigenous participation that exists.” That includes a world-first “dynamic consent” model which allows the DNA donor to provide or revoke consent for specific projects even after they have consented to their sequenced genome being held on file, Emma Kowal said. Every application to access the data would be decided upon by the Indigenous governance board, which is chaired by the Indigenous human rights commissioner Mick Gooda. Also on the board is Prof Mick Dodson, who was opposed to the genome projects of the 1990s on the grounds that DNA was collective cultural property. https://www.theguardian.com/australia-news/2016/aug/18/indigenous-dna-at-centre-of-ethical-furore-could-help-reconnect-stolen-generations

  2. 2.

    The Aboriginal and Torres Strait Islander population has a relatively young age structure, in 2011 the median age of the ATSI population was 21.6 years. http://www.abs.gov.au/ausstats/abs@.nsf/Products/C19A0C6E4794A3FACA257CC900143A3D?opendocument

  3. 3.

    Human Genetics Society of Australasia (HGSA), 39th Annual Scientific Meeting, August 2105, Perth Australia. Rare Diseases and Indigenous Genetics https://www.hgsa.org.au/documents/item/4559 Accessed August 2016.

  4. 4.

    http://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN&diseaseGroup=minds Accessed July 2016.

  5. 5.

    About NCIG: an introduction for donor communities. http://ncig.anu.edu.au/ncig-collection/current-projects/community-engagement/about-ncig-introduction-donor-communities Accessed July 2016.

  6. 6.

    Patient Archive: Phenotype is fundamentally important to identifying the cause/origin of both rare and complex disorders, and substantially reducing the search-space for genomic variation. http://www.garvan.org.au/research/kinghorn-centre-for-clinical-genomics/clinical-genomics/about-kccg/teams/phenomics-team#Patient_Archive

  7. 7.

    WA Aboriginal Health and Wellbeing Framework 2015–2030 to articulate the commitment and a set of guiding principles, that also articulates the multi-dimensional aspects of health and well-being from an Aboriginal perspective and which recognises that Aboriginal people bring a diverse range of skills, including the ability to break down the cultural barriers between our cultures that can prevent best health care for their communities. http://ww2.health.wa.gov.au/Improving-WA-Health/About-Aboriginal-Health/WA-Aboriginal-Health-and-Wellbeing-Framework-2015-2030 Accessed August 2016.

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Acknowledgements

Authors are supported by an NHMRC Partnership Grant (#1114437) and the Lowitja Institute. GB is supported by the Raine Clinician Research Fellowship. The authors acknowledge and greatly appreciate the support and guidance from our colleagues in the Aboriginal Health Directorate, Department of Health, Government of Western Australia; their ongoing advice and insights are highly valued.

Author information

Authors and Affiliations

  1. Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia

    Gareth Baynam

  2. Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia

    Gareth Baynam

  3. Undiagnosed Diseases Program, Subiaco, WA, Australia

    Gareth Baynam

  4. Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia

    Caron Molster, Alicia Bauskis & Hugh J. S. Dawkins

  5. Alfred Deakin Institute for Citizenship and Globalisation, Deakin University, Melbourne, Australia

    Emma Kowal

  6. National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia

    Emma Kowal

  7. Victorian Clinical Genetics Services, Parkville, VIC, Australia

    Ravi Savarirayan

  8. Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia

    Ravi Savarirayan

  9. Northern Territory Clinical Genetics Services, NT, Darwin, 9000, Australia

    Ravi Savarirayan

  10. Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, 3010, Australia

    Margaret Kelaher

  11. John Curtin School of Medical Research, Australian National University, Canberra, Australia

    Simon Easteal & Libby Massey

  12. National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia

    Simon Easteal & Libby Massey

  13. Wellbeing and Preventable Chronic Disease Division, Menzies School of Health Research, Charles Darwin University, Darwin, NT, 0811, Australia

    Gail Garvey

  14. Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia

    Jack Goldblatt & Nicholas Pachter

  15. School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia

    Jack Goldblatt & Nicholas Pachter

  16. School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia

    Nicholas Pachter

  17. Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia

    Tarun S. Weeramanthri

Authors
  1. Gareth Baynam
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  2. Caron Molster
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  3. Alicia Bauskis
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  4. Emma Kowal
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  9. Gail Garvey
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  13. Hugh J. S. Dawkins
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Corresponding author

Correspondence to Gareth Baynam .

Editor information

Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Stephen C. Groft

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Baynam, G. et al. (2017). Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_27

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